Details of Disease | DrugMAP

General Information of Disease (ID: DISFSWS1)

Disease Name	Hereditary sensory and autonomic neuropathy type 5
Synonyms	neuropathy, hereditary sensory and autonomic, type V; HSAN V; neuropathy, hereditary sensory and autonomic, type 5; HSAN 5; insensitivity to pain, congenital; hereditary sensory and autonomic neuropathy type V; congenital insensitivity to pain and thermal analgesia; autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF; HSAN5; NGF autosomal recessive hereditary sensory and autonomic neuropathy
Definition	Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.
Disease Hierarchy	DIS2VOAM: Hereditary sensory and autonomic neuropathy DISFSWS1: Hereditary sensory and autonomic neuropathy type 5
Disease Identifiers	MONDO ID MONDO_0012092 MESH ID D009477 UMLS CUI C0020075 OMIM ID 608654 MedGen ID 6916 Orphanet ID 64752 SNOMED CT ID 128206006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DNMT1	TT6S2FE	Strong	Biomarker	[1]
NGF	TTDN3LF	Strong	Autosomal recessive	[2]
NTRK1	TTTDVOJ	Strong	Genetic Variation	[3]
SCN9A	TT4G2JS	Definitive	GermlineCausalMutation	[4]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NGF	OTOLABJT	Strong	Autosomal recessive	[2]
RETREG1	OTYOSLZX	Definitive	Biomarker	[5]
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References

1	Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet. 2011 Jun;43(6):595-600. doi: 10.1038/ng.830. Epub 2011 May 1.
2	A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet. 2004 Apr 15;13(8):799-805. doi: 10.1093/hmg/ddh096. Epub 2004 Feb 19.
3	No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.Ann Neurol. 2002 Aug;52(2):224-7. doi: 10.1002/ana.10245.
4	Effects of ranolazine on wild-type and mutant hNav1.7 channels and on DRG neuron excitability. Mol Pain. 2010 Jun 8;6:35. doi: 10.1186/1744-8069-6-35.
5	Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18.